Canonical Allele Identifier: CA1741791
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 995971
ClinVar RCV Id: RCV001290232
dbSNP Id: rs575528363
gnomAD v2: 2-85779006-C-T
gnomAD v3: 2-85551883-C-T
gnomAD v4: 2-85551883-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551883C>T , CM000664.2:g.85551883C>T GRCh38
NC_000002.11:g.85779006C>T , CM000664.1:g.85779006C>T GRCh37
NC_000002.10:g.85632517C>T NCBI36
NG_011811.2:g.14652G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6016G>A
ENST00000482662.2:n.4423G>A
ENST00000685865.1:n.2375G>A
ENST00000687250.1:n.2075G>A
ENST00000687995.1:n.1890G>A
ENST00000688205.1:c.*1131G>A ENSP00000509673.1:n.*1131G>A
ENST00000688788.1:n.1777G>A
ENST00000689276.1:c.1469G>A ENSP00000510012.1:p.Arg490Lys
ENST00000689576.1:c.*157G>A ENSP00000508712.1:n.*157G>A
ENST00000690108.1:c.*1194G>A ENSP00000510617.1:n.*1194G>A
ENST00000690468.1:c.*90G>A ENSP00000509078.1:n.*90G>A
ENST00000690595.1:c.863G>A ENSP00000508979.1:p.Arg288Lys
ENST00000691348.1:c.*90G>A ENSP00000509369.1:n.*90G>A
ENST00000691410.1:c.*1115G>A ENSP00000508479.1:n.*1115G>A
ENST00000693287.1:c.854G>A ENSP00000510264.1:p.Arg285Lys
ENST00000693681.1:c.851G>A ENSP00000510789.1:p.Arg284Lys
ENST00000233838.9:c.1538G>A MANE Select ENSP00000233838.3:p.Arg513Lys
ENST00000233838.8:c.1538G>A ENSP00000233838.3:p.Arg513Lys
ENST00000430215.7:c.1367G>A ENSP00000408045.3:p.Arg456Lys
ENST00000465637.5:n.179-3879G>A
NM_000821.5:c.1538G>A NP_000812.2:p.Arg513Lys
NM_000821.6:c.1538G>A NP_000812.2:p.Arg513Lys
NM_001142269.2:c.1367G>A NP_001135741.1:p.Arg456Lys
NM_001142269.3:c.1367G>A NP_001135741.1:p.Arg456Lys
XM_005264259.3:c.1538G>A XP_005264316.1:p.Arg513Lys
XM_011532764.1:c.716G>A XP_011531066.1:p.Arg239Lys
XM_011532765.1:c.716G>A XP_011531067.1:p.Arg239Lys
XR_939677.1:n.1451G>A
XM_005264259.5:c.1538G>A XP_005264316.1:p.Arg513Lys
XM_011532764.3:c.716G>A XP_011531066.1:p.Arg239Lys
XM_011532765.3:c.716G>A XP_011531067.1:p.Arg239Lys
XM_017003803.2:c.1367G>A XP_016859292.1:p.Arg456Lys
XR_001738703.2:n.1451G>A
NM_000821.7:c.1538G>A MANE Select NP_000812.2:p.Arg513Lys
NM_001142269.4:c.1367G>A NP_001135741.1:p.Arg456Lys